Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report

Journal of the Neurological Sciences

Volumn 318, Issue 1-2, 2012, Pages 115-118

  Kinoshita, Michiaki ^a   Yoshida, Kunihiro ^a   Oyanagi, Kiyomitsu ^a   Hashimoto, Takao ^b   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Specified Medical Corporation Jisenkai Aizawa Hospital   (Japan)

Author keywords

CADASIL; Colony stimulating factor 1 receptor; Dementia; Leukoencephalopathy; Neuroaxonal spheroids

Indexed keywords

COLONY STIMULATING FACTOR RECEPTOR;

ADULT; APATHY; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ATROPHY; BRAIN BIOPSY; CASE REPORT; COGNITIVE DEFECT; DIABETES MELLITUS; DNA DETERMINATION; ELECTRON MICROSCOPY; EPILEPSY; FEMALE; GENE MUTATION; HAND GRIP; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROID; HISTOLOGY; HUMAN; HYPERLIPIDEMIA; HYPERREFLEXIA; HYPERTENSION; IMMUNOHISTOCHEMISTRY; LEUKOENCEPHALOPATHY; MINI MENTAL STATE EXAMINATION; MULTIINFARCT DEMENTIA; MUTISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; QUADRIPLEGIA; TENDON REFLEX; VERBAL COMMUNICATION;

CADASIL; DEMYELINATING DISEASES; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; NERVE FIBERS, MYELINATED; NEUROAXONAL DYSTROPHIES; PEDIGREE; POINT MUTATION; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR;

EID: 84861592142     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.03.012     Document Type: Article

References (15)

1. J.M. Powers A neuropathologic overview of the neurodystrophies and neurolipidoses P.J. Vinken, G.W. Bruyn, Handbook of Clinical Neurology vol. 66 1996 Elsevier Amsterdam 1 32
2. A. Joutel, C. Corpechot, A. Ducros, K. Vahedi, H. Chabriat, and P. Mouton Notch 3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia Nature 383 1996 707 710
3. M.M. Rucoux, and C.A. Maurage CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy J Neuropathol Exp Neurol 56 1997 947 964
4. S. Yanagawa, N. Ito, K. Arima, and S. Ikeda Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Neurology 58 2002 817 820
5. K. Hara, A. Shiga, T. Fukutake, H. Nozaki, A. Miyashita, and A. Yokoseki Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease N Engl J Med 360 2009 1729 1739
6. R. Axelsson, M. Röyttä, P. Sourander, H.O. Akesson, and O. Andersen Hereditary diffuse leukoencephalopathy with spheroids Acta Psychiatr Scand Suppl 314 1984 1 65
7. S. Terada, H. Ishizu, O. Yokota, T. Ishihara, H. Nakashima, and A. Kugo An autopsy case of hereditary diffuse leukoencephalopahty with spheroids, clinically suspected of Alzheimer's disease Acta Neuropathol 108 2004 538 545
8. J.D. Marotti, S. Tobias, J.D. Fratkin, J.M. Powers, and C.H. Rohdes Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature Acta Neuropathol (Berl) 107 2004 481 488
9. K. Itoh, K. Shiga, K. Shimizu, M. Muranishi, M. Nakagawa, and S. Fushiki Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics Acta Neuropathol 111 2006 39 45
10. Z.S. Ali, J.P. Van Der Voorn, and J.M. Powers A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia - a role for oxidative damage J Neuropathol Exp Neurol 66 2007 660 672
11. C. Wider, J.A. Van Gerpen, S. DeArmond, E.A. Shuster, D.W. Dickson, and Z.K. Wszolek Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD). A single entity? Neurology 72 2009 1953 1959
12. R. Rademakers, M. Baker, A.M. Nicholson, N.J. Rutherford, N. Finch, and A. Soto-Ortolaza Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids Nat Genet 44 2012 200 207
13. S.H. Freeman, B.T. Hyman, K.B. Sims, E.T. Hedley-Whyte, A. Vossough, and M.P. Frosch Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations Brain Pathol 19 2009 39 47
14. M.S. van der Knaap, S. Naidu, B.K. Kleinschmidt-DeMasters, W. Kamphorst, and H.C. Weinstein Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids Neurology 54 2000 463 468
15. M. O'Sullivan, J.M. Jarosz, R.J. Martin, N. Deasy, J.F. Powell, and H.S. Markus MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL Neurology 56 2001 628 634